[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):834-6. doi: 10.3760/cma.j.issn.1003-9406.2015.06.018.
[Article in Chinese]


Objective: To explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase (FUT1) gene mutations.

Methods: Blood phenotype of the propositus was determined by standard serological testing. Polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing of PCR product were used to analyze its ABO genotype. The PCR product of FUT1 gene was sequenced and analyzed.

Results: The phenotype of the propositus was initially detected as para-Bombay A type. Direct sequencing of ABO gene showed that the genotype of the proband was A101/O01 (261G/del), which was consistent with the result of PCR-SSP. Two homo-mutations, 35C>T and 658C>T, were detected in the FUT1 gene by sequencing, and the genotype was determined as h(35T+658T)/h(35T+658T).

Conclusion: h(35T+658T)/h(35T+658T) is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Base Sequence
  • DNA Mutational Analysis / methods
  • DNA Primers
  • Fucosyltransferases / genetics*
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction


  • ABO Blood-Group System
  • DNA Primers
  • Fucosyltransferases
  • galactoside 2-alpha-L-fucosyltransferase